1/30. Lipoid proteinosis.A 21-year-old man presented with a complaint of hoarseness as well as lesions along the eyelids and on his knees, elbows, and fingers. hoarseness had developed in childhood, followed by lesions along the eyelids and on the elbows and fingers. He had developed lesions on the knees, feet, scrotum, penis, and axilla over the last 2 years. His parents were relatives, but nobody in the family showed similar features. His physical examination was normal. On dermatologic examination, there were beaded papules along the eyelids and small, yellow-white infiltrations on the tongue, buccal mucosa, palate, scrotum, and penis (Fig. 1). His tongue was firm and its mobility was limited. He also had infiltration of the frenulum (Fig. 2) and warty and hyperkeratotic papular and nodular lesions on the hands, knees, elbows (Fig. 3), and axilla. The laboratory findings and laryngoscopic examination were normal. Ophthalmologic, neurologic, and psychiatric examinations were also normal. Electroencephalogram (EEG), electromyogram (EMG), craniography, and cranial computed tomography (CT) scanning revealed no abnormality. The histopathologic examination of the skin biopsy specimens obtained from the axilla, elbow, and dorsum of the hand showed hyperkeratosis and periodic acid-Schiff-positive (PAS( )) staining hyaline material around the dermal capillaries and sweat glands, and confirmed the diagnosis of lipoid proteinosis.- - - - - - - - - - ranking = 1keywords = hoarseness (Clic here for more details about this article) |
2/30. Lipoid proteinosis: report of four siblings and brief review of the literature.Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of periodic acid-Schiff (PAS)-positive hyaline material in various tissues including skin, mucous membranes, and internal organs. A family is reported in which four siblings (two boys and two girls) born to nonconsanguineous parents had lipoid proteinosis. All had the characteristic hoarseness of voice and three had skin lesions. The diagnosis was confirmed by the presence of typical features on light and electron microscopy.- - - - - - - - - - ranking = 1keywords = hoarseness (Clic here for more details about this article) |
3/30. Periodontal lesions in lipoid proteinosis.Lipoid proteinosis is a rare autosomal recessive heritable disease. Clinical features are hoarseness starting in infancy and the formation of yellowish papules and plaques on the skin and mucous membranes of the nose, oral cavity, pharynx and larynx. light and electron microscopy demonstrates a subepithelial accumulation of PAS-positive (hyaline) material around blood vessels and in the dermis. This case is unusual in that the gingiva is also involved in the lipoid proteinosis.- - - - - - - - - - ranking = 1keywords = hoarseness (Clic here for more details about this article) |
4/30. Lipoid proteinosis of the larynx.Lipoid proteinosis is a rare disease that presents with hyaline deposits in many tissues. It involves predominantly the skin and upper aerodigestive tract, presenting with small yellowish papules and hoarseness. It may involve the central nervous system and cause intracerebral calcifications. Laryngeal lesions may resemble singer's nodule or chronic laryngitis. The pathogenesis of the disease is not clear although several studies suggest a defective collagen production and/or lysosomal storage disease. In this article two cases with skin and larynx involvement are reported.- - - - - - - - - - ranking = 1keywords = hoarseness (Clic here for more details about this article) |
5/30. extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in several tissues (including skin) and composed of two alternatively spliced isoforms, ECM1a and ECM1b, the latter lacking exon 7 of this 10-exon gene (ECM1). To date, mutations that either affect ECM1a alone or perturb both ECM1 transcripts have been demonstrated in six cases. However, lipoid proteinosis is clinically heterogeneous with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurological abnormalities such as temporal lobe epilepsy. In this study, we sequenced ECM1 in 10 further unrelated patients with lipoid proteinosis to extend genotype-phenotype correlation and to add to the mutation database. We identified seven new homozygous nonsense or frameshift mutations: R53X (exon 3); 243delG (exon 4); 507delT (exon 6); 735delTG (exon 7); 785delA (exon 7); 892delC (exon 7) and 1190insC (exon 8), as well as two new compound heterozygous mutations: W160X/F167I (exon 6) and 542insAA/R243X (exons 6/7), none of which were found in controls. The mutation 507delT occurred in two unrelated subjects on different ECM1 haplotypes and may therefore represent a recurrent mutation in lipoid proteinosis. Taken with the previously documented mutations in ECM1, this study supports the view that exons 6 and 7 are the most common sites for ECM1 mutations in lipoid proteinosis. Clinically, it appears that mutations outside exon 7 are usually associated with a slightly more severe mucocutaneous lipoid proteinosis phenotype, but neurological features do not show any specific genotype-phenotype correlation.- - - - - - - - - - ranking = 1keywords = hoarseness (Clic here for more details about this article) |
6/30. Lipoid proteinosis in two siblings: a report from india.Lipoid proteinosis is an autosomally recessive genodermatosis characterized by widespread deposition of eosinophilic hyaline-like material in the skin, mucous membranes, and other internal organs. Occurrence of lipoid proteinosis in siblings is very rare. We report two siblings from the Indian subcontinent with the classical features of lipoid proteinosis. Both the siblings had had hoarseness of voice and spontaneous vesicular eruptions healing with atrophic scars since their early childhood. They had diffuse waxy thickening of the skin along with beaded papules along the eyelid margin. The tongue was also infiltrated. skin biopsy demonstrated periodic acid Schiff (PAS) positive eosinophilic material around the blood vessels and appendages.- - - - - - - - - - ranking = 1keywords = hoarseness (Clic here for more details about this article) |
7/30. Lipoid proteinosis in two siblings: a report from south india.A 6-year-old girl and her 9-year-old brother, born of nonconsanguineous parents, had hoarseness and multiple, asymptomatic, raised skin lesions present since childhood. On examination, both siblings had hoarseness and numerous skin-colored, waxy papules distributed over the forehead, face, neck, axilla, groin, and extremities. Acneiform (pocklike) scars were present on the face, trunk, and extremities. Eyelid beading (moniliform blepharosis) was present over bilateral upper and lower eyelids. The tongue, lips, and frenulum were thickened and infiltrated, and the patients were unable to protrude the tongue out of the mouth. The scalp had patchy alopecia. Histological examination of representative skin specimens (from both siblings) showed deposition of pink, amorphous material in the papillary dermis, around blood vessels, and around appendages. These deposits stained positive with periodic acid-Schiff stain, were diastase resistant, and were negative for congo red, confirming our clinical diagnosis of lipoid proteinosis. Over 250 cases of this rare disorder have been described in the literature, but occurrence of lipoid proteinosis in siblings is rare.- - - - - - - - - - ranking = 2keywords = hoarseness (Clic here for more details about this article) |
8/30. Lipoid proteinosis in siblings.Two sisters, aged 16 and 11, presented with skin lesions and hoarseness since early childhood. skin lesions consisted of infiltrated warty nodules, and papules over elbows, axillae, and hands. The oral mucosa, tongue, lips, larynx, and vocal cords also showed infiltration. The characteristic beaded papules on eyelid margin and hoarseness pointed to the rare diagnosis of lipoid proteinosis.- - - - - - - - - - ranking = 2keywords = hoarseness (Clic here for more details about this article) |
9/30. Lipoid proteinosis.Lipoid proteinosis (Urbach-Wiethe disease) is a rare, recessively inherited disorder that is characterized by the deposition of hyaline-like material in the skin, oral cavity, and other tissues. It usually appears in infancy with hoarseness. We report a case of lipoid proteinosis in a 10-year-old boy that demonstrates the characteristic clinical, histologic, and ultramicroscopic features of this disease.- - - - - - - - - - ranking = 1keywords = hoarseness (Clic here for more details about this article) |
10/30. Lipoid proteinosis of larynx: review of four cases.Lipoid proteinosis is a rare autosomal recessive disorder characterized by intercellular deposition of an amorphous hyaline material. It mainly involves skin and mucosal membranes of upper aerodigestive tract as well as central nervous system, lung, lymph nodes and striated muscles. Etiology and pathogenesis are unknown. Infantile hoarseness is a common presenting feature of the disease due to infiltration of larynx. In two-thirds of the cases, voice changes are present at birth or in early infancy as the first manifestation. We present four patients with lipoid proteinosis involving skin, oropharynx and larynx.- - - - - - - - - - ranking = 1keywords = hoarseness (Clic here for more details about this article) |
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